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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 Hits 1 – 20 of 80 1 Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation. Klusek, Jessica; Fairchild, Amanda; Moser, Carly... In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022) BASE Show details 2 Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study Floriana Costanzo; Ginevra Zanni; Elisa Fucà; Margherita Di Paola; Sabina Barresi; Lorena Travaglini; Giovanna Stefania Colafati; Antonio Gambardella; Emanuele Bellacchio; Enrico Bertini; Deny Menghini; Stefano Vicari In: International Journal of Environmental Research and Public Health; Volume 19; Issue 3; Pages: 1224 (2022) BASE Show details 3 Contributo para a tradução e adaptação cultural para a população portuguesa da Scale for the Assessment and Rating of Ataxia Santos, Hugo; Martins, Maria Elisabete; Cruz, Rafael. - : RACS, 2022 BASE Show details 4 Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant Ciaccio, C.; Duga, V.; Pantaleoni, C.. - : Elsevier Masson s.r.l., 2021 BASE Show details 5 Investigating Perceptual Subgroups in Speakers with Ataxic Dysarthria: An Auditory Free- Classification Approach Amaral, Jessica Rae. - 2021 BASE Show details 6 Automated topographic prominence based quantitative assessment of speech timing in Cerebellar Ataxia Kashyap, Bipasha; Horne, Malcolm; Pathirana, Pubudu N.. - : Elsevier, 2020 BASE Show details 7 Repeat-Associated Non-Aug Translation Initiation at Expanded Ggggcc Repeats in c9orf72-Associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Green, Katelyn. - 2020 BASE Show details 8 Investigating Perceptual Subgroups of Ataxic Dysarthria Gore, Manisha. - 2020 BASE Show details 9 Effect of different mutations in the ATM gene on the cellular response to ionizing radiation ... : Einfluss verschiedener Mutationen im ATM-Gen auf die zelluläre Antwort auf ionisierende Strahlung ... Hinreiner, Sophie. - : Universität Regensburg, 2019 BASE Show details 10 Automated tongue-twister phrase-based screening for Cerebellar Ataxia using Vocal tract Biomarkers∗ Kashyap, Bipasha; Pathirana, Pubudu; Horne, M. - : IEEE, 2019 BASE Show details 11 DDX3X and specific initiation factors modulate FMR1 repeat‐associated non‐AUG‐initiated translation Linsalata, Alexander E; He, Fang; Malik, Ahmed M. - : Wiley Periodicals, Inc., 2019 BASE Show details 12 Vision, attention and action in posterior cortical atrophy and other dementias Ingle, Harriet Elizabeth. - : The University of Edinburgh, 2019 BASE Show details 13 The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture... In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018) BASE Show details 14 Quantitative assessment of syllabic timing deficits in ataxic dysarthria Kashyap, Bipasha; Pathirana, Pubudu; Horne, Malcolm. - : Institute of Electrical and Electronics Engineers, 2018 BASE Show details 15 Defining the Role for ZBP-89 in ATM-mediated DNA Damage Response to Irradiation in the Intestine Carethers, Christine; Merchant, MD, PhD, Juanita L. In: Journal of Health Disparities Research and Practice (2016) BASE Show details 16 Minocycline Treatment and the Necessity to Develop a Novel Outcome Measure for Children with Angelman Syndrome Grieco, Joseph Christopher. - : Digital Commons @ University of South Florida, 2015 In: Graduate Theses and Dissertations (2015) BASE Show details 17 Nasality in Friedreich ataxia Poole, Matthew L; Wee, Jessica S; Folker, Joanne E. - : Informa Healthcare, 2015 BASE Show details 18 Subgroups of Ataxic Dysarthria France, Ashley. - 2014 BASE Show details 19 Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes (Review) Vogel, Adamn P.; Folker, Joanne; Poole, Matthew L.. - : John Wiley & Sons, 2014 BASE Show details 20 Ataxia espinocerebelar tipo 6: relato de caso Bianca Simone Zeigelboim; Hélio Afonso Ghizoni Teive; Hugo Amilton Santos de Carvalho... In: Revista CEFAC, Vol 16, Iss 5, Pp 1650-1654 (2014) (2014) BASE Show details Page: 1 2 3 4

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